W27* (p.Trp27Ter) variant of NPC1 (O15118)
W27* (p.Trp27Ter) in NPC1 (O15118) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
W27* (p.Trp27Ter) variant details
- p.Trp27Ter
- rs2511358068
- ClinGen CA402041399
- ClinVar RCV002797169
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.854
- CADD 36.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Cited in: Niemann-Pick Disease Type C. (PMID 20301473)